Klaniewska Magdalena (Magdalena Klaniewska, Magdalena Kłaniewska, Kłaniewska M)

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 8

Top Topics

Duchenne Muscular Dystrophy

Intellectual Disability

Genome Wide Analysis

Respiratory Failure

Top Venues

American journal of medical genetics. Part A

Molecular genetics & genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Klaniewska Magdalena, Rydzanicz M, Bladowska J, Borys-Iwanicka A, Iwanicka-Pronicka K, Wasilewski R, Odnoczko E, Zubkiewicz-Kucharska A, Smigiel R, Ploski Rafal
Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease. American journal of medical genetics. Part A 194 (8) (2024)
Klaniewska Magdalena, Rydzanicz M, Bladowska J, Borys-Iwanicka A, Iwanicka-Pronicka K, Wasilewski R, Odnoczko E, Zubkiewicz-Kucharska A, Smigiel R, Ploski Rafal
Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease. American journal of medical genetics. Part A (2024)
Klaniewska Magdalena, Rydzanicz M, Bladowska J, Borys-Iwanicka A, Iwanicka-Pronicka K, Wasilewski R, Odnoczko E, Zubkiewicz-Kucharska A, Smigiel R, Ploski Rafal
Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease. American journal of medical genetics. Part A 194 (8) (2024)
Klaniewska Magdalena, Rydzanicz M, Bladowska J, Borys-Iwanicka A, Iwanicka-Pronicka K, Wasilewski R, Odnoczko E, Zubkiewicz-Kucharska A, Smigiel R, Ploski Rafal
Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease. American journal of medical genetics. Part A 194 (8) (2024)
Klaniewska Magdalena, Bolanowska-Tyszko Anna, Latos-Bielenska Anna, Jezela-Stanek Aleksandra, Szczaluba Krzysztof, Krajewska-Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz-Kucharska Agnieszka, Rydzanicz Małgorzata, Ploski Rafal, Smigiel Robert
Clinical heterogeneity of polish patients with KAT6B-related disorder. Molecular genetics & genomic medicine (2023)
Agnieszka Stembalska, Malgorzata Rydzanicz, Wojciech Walas, Piotr Gasperowicz, Agnieszka Pollak, Victor Murcia Pienkowski, Mateusz Biela, Klaniewska Magdalena, Zuzanna Gamrot, Ewa Gronska, Ploski Rafal, Robert Smigiel
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene. Genes 13 (5) (2022)
Agnieszka Stembalska, Malgorzata Rydzanicz, Klaniewska Magdalena, Lech Dudarewicz, Agnieszka Pollak, Mateusz Biela, Piotr Stawinski, Ploski Rafal, Robert Smigiel
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias. Genes 13 (8) (2022)
Ewelina Wolańska, Agnieszka Pollak, Malgorzata Rydzanicz, Karolina Pesz, Klaniewska Magdalena, Anna Rozensztrauch, Paweł Skiba, Piotr Stawiński, Ploski Rafal, Robert Śmigiel
The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes. Genes 12 (3) (2021)